Hypogonadotropic Hypogonadism 8 With Or Without Anosmia

Alternative Names

  • HH8

Associated Genes

KISS1 Receptor
Back to search Result
WHO-ICD-10 version:2010

Endocrine, nutritional and metabolic diseases

Disorders of other endocrine glands

OMIM Number

614837

Mode of Inheritance

Autosomal Recessive

Gene Map Locus

19p13.3

Description

Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' [From OMIM].

Epidemiology in the Arab World

View Map
Subject IDCountrySexFamily HistoryParental ConsanguinityHPO TermsVariantZygosityMode of InheritanceReferenceRemarks
614837.1.1TunisiaMaleYesYes Microphallus ; Hypoglycemia ; Delayed pu...NM_032551.4:c.1195T>CHomozygousAutosomal, RecessiveMoalla et al. 2019 Proband. Parents are...
614837.1.2 TunisiaFemaleYesYes Primary amenorrhea; Hypoglycemia; Delaye...NM_032551.4:c.1195T>CHomozygousAutosomal, RecessiveMoalla et al. 2019 Sibling of proband. ...
614837.1.3TunisiaFemaleYesYes Primary amenorrhea; Hypoglycemia; Delaye...NM_032551.4:c.1195T>CHomozygousAutosomal, RecessiveMoalla et al. 2019 Sibling of proband. ...
© CAGS 2024. All rights reserved.